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Protein Ontology report - voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human) PR:000000839 - http://purl.obolibrary.org/obo/PR_000000839        Annotations       Ontology Information Show OBO stanza / PAF / GPI   PRO ID PR:000000839      PRO name voltage-gated potassium channel subunit KCNQ1 sequence variant A341V (human)    Synonyms PRO-Short-label: EXACT: hKCNQ1/var:A341V PRO-proteoform-std: EXACT: UniProtKB:P51787, Ala-341, CHEBI:30015 NARROW: UniProtKB:P51787-1, Ala-341, CHEBI:30015 Other: EXACT: voltage-gated potassium channel subunit KCNQ1 sequence variant 3 (human)   Definition "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Val residue at the position equivalent to Ala-341 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-341, CHEBI:30015." [PMID:10704188, PMID:8818942, PMID:8872472, PMID:9570196, PRO:CNA, PRO:DAN]    Comment Note: This residue is located within the S6 segment.    PRO Category organism-sequence    Parent PR:P51787 potassium voltage-gated channel subfamily KQT member 1 (human)   Taxon NCBITaxon:9606 Homo sapiens   Term Hierarchy   Visualization DAG: OLS: Back to top Related Cross References   Db identifiers UniProtKB_VAR:VAR_001539 Back to top Functional Annotation (PRO-centric view) Switch to GO Centric View    PRO Term GO Annotation Evidence PR:000000839 hKCNQ1/var:A341V UniProtKB:P51787, Ala-341, CHEBI:30015 | UniProtKB:P51787-1, Ala-341, CHEBI:30015 | voltage-gated potassium channel subunit KCNQ1 sequence variant 3 (human) "A potassium voltage-gated channel subfamily KQT member 1 (human) that has a Val residue at the position equivalent to Ala-341 of the amino acid sequence represented by UniProtKB:P51787-1. Example: UniProtKB:P51787-1, Ala-341, CHEBI:30015." [PMID:10704188, PMID:8818942, PMID:8872472, PMID:9570196, PRO:CNA, PRO:DAN] associated_with_disease_progression DO:2843 long QT syndrome PMID:10704188; PMID:8818942; PMID:8872472; PMID:9570196